medigraphic.com
Órgano Oficial del Instituto Nacional de Pediatría

2018, Number S1

<< Back Next >>

Acta Pediatr Mex 2018; 39 (S1)

Relevant aspects of the congenital adrenal hyperplasia newborn screening

Hinojosa-Trejo MA, Arguinzoniz-Valenzuela SL, Herrera-Pérez LA, Caamal-Parra G, Ibarra-González I, Vela-Amieva M, Bolaños-Córdova LE, González-Baqué I, García-Flores EP

Language: Spanish
References: 25
Page: 14-24
PDF size: 495.42 Kb.


ABSTRACT

Introduction: The benefit of the newborn screening for congenital adrenal hyperplasia has been demonstrated and the determination of 17-αhydroxyprogesterone (17αOHP) in blood is the frequent used biomarker. In Mexico the prevalence of this disease determined by newborn screening is not well known.
Objective: To present the congenital adrenal hyperplasia birth prevalence obtained through newborn screening and to describe 17αOHP blood concentrations in Mexican newborns according to sex, gestational age and extrauterine life age at the time of sampling, birth weight and health condition.
Material and Methods: Quantitative determination of 17αOHP by immunoflourometric assay in dry blood on filter paper. All those newborns whose samples had a 17αOHP blood concentration value ›20 nmol/L, were immediately notified for their localization and confirmatory tests.
Results: The birth prevalence of congenital adrenal hyperplasia obtained in this work was 12.6 per 100,000, ie 1:7,920 screened newborns. The 17 αOHP blood concentrations had significant differences according to weight, gestational age and health status. The recall rate was 0.14%. A finding of this study is the high number of suspicious newborns who died without being able to be confirmed (106 dead/1,820 suspects, 5.82%).
Conclusion: The congenital adrenal hyperplasia birth prevalence was 12.6 per 100.000 (1:7,920) screened newborns. It is necessary to reinforce the newborn screening postanalytical component to reduce the number of non-localized and unconfirmed cases.


REFERENCES

  1. Delle Piane L, Rinaudo PF, Miller WL. 150 years of congenital adrenal hyperplasia: translation and commentary of De Crecchio’s classic paper from 1865. Endocrinology. 2015; 156 (4):1210-17.

  2. El-Maouche D, Arlt W, Merke DP. Congenital adrenal hyperplasia. Lancet. 2017; 390(10108):2194-210.

  3. Antal Z, Zhou P. Congenital Adrenal Hyperplasia. Pediatr Rev. 2009; 30(7): e49-57.

  4. Manoli I, Kanaka-Gantenbein C, Voutetakis A, Maniati- Christidi M, Dacou-Voutetakis C. Early growth, pubertal development, body mass index and final height of patients with congenital adrenal hyperplasia: factors influencing the outcome. Clin Endocrinol (Oxford) 2002; 57(5): 669-676.

  5. Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2010; 95(9):4133-60.

  6. Paz-Valiñas L, Varela-Lema L, Atienza-Merino G. Cribado neonatal de la hiperplasia suprarrenal congénita. Revisión sistemática, Red Española de Agencias de Evaluación de Tecnologías y Prestaciones del Sistema Nacional de Salud. Axencia de Avaliación de Tecnoloxias Sanitarias de Galicia. 2014. Informes de Evaluación de Tecnologías Sanitarias. Galicia, 2014. 139 pp.

  7. CENETEC. Guía de Práctica Clínica, Tamizaje, Diagnóstico y Tratamiento del Paciente con Hiperplasia Suprarrenal Congénita por Deficiencia de 21 Hidroxilasa (IMSS-715-114). México: CENETEC; 2014. Disponible en: http://www.cenetec. salud.gob.mx/descargas/gpc/CatalogoMaes.

  8. Marumudi E, Khadgawat R, Surana V, Shabir I, Joseph A, Ariachery C, Ammini. Diagnosis and management of classical congenital adrenal hiperplasia. Steroids. 2013; 78 (8): 741-6.

  9. Thil’en A, Nordenström A, Hagenfedt L, von Döbelm U, Guthenberg C, Larsson A. Benefits of neonatal screening for congenital adrenal hyperplasia 21-hydroxylase deficiency in Sweden. Pediatrics. 1998; 101(4):E11.

  10. Grosse SD, Van Vliet G.How many deaths can be prevented by newborn screening for congenital adrenal hyperplasia? Horm Res. 2007;67(6):284-91.

  11. Heather NL, Seneviratne SN, Webster D, Derraik JG, Jefferies C, Carll J, et al. Newborn screening for congenital adrenal hyperplasia in New Zealand, 1994-2013.J Clin Endocrinol Metab. 2015; 100(3):1002-8.

  12. Olgemöller B, Roscher AA, Liebl B, Fingerhut R.Screening for congenital adrenal hyperplasia: adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value. J Clin Endocrinol Metab. 2003; 88(12):5790-4.

  13. Wong T, Shackleton CH, Covey TR, Ellis G.Identification of the steroids in neonatal plasma that interfere with 17alpha- hydroxyprogesterone radioimmunoassays. Clin Chem. 1992;38(9):1830-7.

  14. Sarafoglou K, Banks K, Kyllo J, Pittock S, Thomas W. Cases of congenital adrenal hyperplasia missed by newborn screening in Minnesota. JAMA. 2012; 307(22):2371-4. doi: 10.1001/ jama.2012.5281.

  15. Coulm B, Coste J, Tardy V, Ecosse E, Roussey M, DHCSF Study Group. Efficiency of neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children born in mainland France between 1996 and 2003. Arch Pediatr Adolesc Med. 2012; 166(2):113-20. doi: 10.1001/ archpediatrics.2011.774.

  16. Secretaría de Salud, Diario Oficial de la Federación. Ley General de Salud, Artículo 61, Fracción II, reforma del 25/01/2013.

  17. Norma Oficial Mexicana NOM-034-SSA2-2013, Para la prevención y control de los defectos al nacimiento. Diario Oficial de la Federación, 24/06/2014, México.

  18. Norma Oficial Mexicana NOM-007-SSA2-2016, Para la atención de la mujer durante el embarazo, parto y puerperio, y de la persona recién nacida. Diario Oficial de la Federación, 01/04/2016, México.

  19. Pearce M, Dauerer E, DiRienzo AG, Caggana M, Tavakoli NP. The influence of seasonality and manufacturer kit lot changes on 17α-hydroxyprogesterone measurements and referral rates of congenital adrenal hyperplasia in newborns. Eur J Pediatr. 2017; 176(1):121-9.

  20. Gruñeiro-Papendieck L, Prieto L, Chiesa A, Bengolea S, Bossi G, Bergadá C. Neonatal screening program for congenital adrenal hyperplasia: adjustments to the recall protocol. Horm Res. 2001;55(6):271-7.

  21. Bornstein S, Allolio B, Arlt W, Barthel A, Don-Wauchope A, Hammer G, Husebye E, Merke D, Murad M, Stratakis C, Torpy D. Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2016; 101 (2): 364-389.

  22. Bonfig W, Bechtold S, Schmidt H, Knorr D, Schwarz H. Reduced Final Height Outcome in Congenital Adrenal Hyperplasia under Prednisone Treatment: Deceleration of Growth Velocity during Puberty. J Clin Endocrinol Metab. 2015; 92 (5): 1635-9.

  23. Wilson JMG, Jungner G. Principles of Screening for Disease. Geneva: World Health Organization, 1968.

  24. Tsuji A, Konishi K, Hasegawa S, Anazawa A, Onishi T, Ono M, et al. Newborn screening for congenital adrenal hyperplasia in Tokyo, Japan from 1989 to 2013: a retrospective population- based study. BMC Pediatr. 2015; 15:209. DOI 10.1186/ s12887-015-0529-y.

  25. Struja T, Briner L, Meier A, Kutz A, and Mundwiler E, Huber A, et al. Diagnostic accuracy of basal cortisol level to predict adrenal insufficiency in cosyntropin testing: results from an observational cohort study with 804 patients. Endocr Pract. 2017; 23(8):949-61.




2020     |     www.medigraphic.com